Townes-Brocks syndrome.
A 2-week-old male is presented with the clinical findings of the autosomal dominant Townes-Brocks syndrome in an otherwise unaffected family. The patient showed the full spectrum of anomalies including imperforate anus, perineal fistula, triphalangeal thumb, preaxial polydactyly, pre-auricular tags, and microtia. As there is considerable overlap with the VACTERL association, careful examination of the parents is necessary with regard to the genetic counselling risk.
König
R
R
Institut für Humangenetik, Johann Wolfgang Goethe Universität, Frankfurt, Federal Republic of Germany.
Schick
U
U
Fuchs
S
S
D001006:Anus, Imperforate; D004431:Ear, External / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male; D013577:Syndrome